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Guidelines > AAP Health Supervision Guidelines for Prader-Willi syndrome > Flashcards

AAP Health Supervision Guidelines for Prader-Willi syndrome Flashcards

1
Q

What is the genetic abnormality in Prader Willi Syndrome?

A

Imprinting disorder of the paternally inherited 15q11q13

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2
Q

What is the incidence of PWS?

A

1 in 15 000 to 25 000

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3
Q

What are the fetal clinical findings in PWS?

A
  • breech position
  • reduced fetal activity
  • polyhydramnios
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4
Q

What are the clinical findings for growth in PWS?

A
  • short stature
  • FTT in infancy
  • central obesity
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5
Q

What are the clinical findings for the head and neck in PWS?

A
  • dolichocephaly
  • narrow bitemporal diameter
  • almond shaped eyes
  • strabismus
  • upslanting palpebral fissures
  • myopia
  • hyperopia
  • thin upper lip
  • small appearing mouth
  • down turned corners of mouth
  • thick viscous (reduced) saliva
  • enamel hypoplasia
  • early dental caries
  • dental crowding and malocclusion
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6
Q

What are the ocular clinical findings in PWS?

A
  • strabismus
  • nystagmus
  • cataracts (rare)
  • retinal hypopigmentation
  • fovea hypoplasia
  • hyperopia
  • myopia
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7
Q

What are the respiratory clinical findings in PWS?

A
  • hypoventilation
  • OSA
  • central sleep apnea
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8
Q

What are the GI clinical findings for PWS?

A
  • feeding problems in infancy
  • GER
  • decreased vomiting
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9
Q

What are the GU findings in PWS?

A
  • small penis
  • scrotal hypoplasia
  • cryptorchidism
  • hypoplastic labia minora
  • hypoplastic clitoris
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10
Q

What are the skeletal findings for PWS?

A
  • osteoporosis
  • osteopenia
  • scoliosis
  • kyphosis
  • small hands and feet
  • narrow hands with straight ulnar border
  • clinodactyly
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11
Q

What are the skin, nails, and hair findings in PWS?

A
  • hypopigmentation
  • blonde to light brown hair
  • frontal hair upsweep
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12
Q

What are the neurological findings in PWS?

A
  • severe neonatal hypotonia that improves with age
  • poor neonatal suck and swallow reflexes
  • poor gross motor coordination
  • poor fine motor coordination
  • mild to moderate MR
  • LD
  • increased risk of seizures
  • GDD
  • speech articulation problems
  • hyperphagia
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13
Q

What are the sleep findings in PWS?

A
  • snoring or OSA
  • central apnea during sleep
  • excessive daytime sleepiness
  • early morning waking
  • night awakening for food seeking
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14
Q

What are the voice findings in PWS?

A
  • hypernasal speech

* weak or squeaky cry in infancy

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15
Q

What are the endocrine findings in PWS?

A
  • hyperinsulinemia
  • GH deficiency
  • hypogonadotropic hypogonadism
  • DM Type 2
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16
Q

What are the behavior and mental health findings for PWS?

A
  • skin picking
  • rectal picking
  • food related behavioral problems
  • temper tantrums
  • difficulty with transitions
  • stubbornness
  • obsessive behaviors
  • perseverant speech
  • OCD
  • psychosis
  • elopement
17
Q

What other findings can be seen in PWS?

A
  • temperature instability
  • high pain threshold
  • unusual skill with jigsaw puzzles
18
Q

What are the major findings for Prader Willi Syndrome?

A 
Congenital hypotonia with poor suck
GDD
Difficulty with weight gain in infancy 
Hyperphagia with central obesity if uncontrolled 
Cognitive impairment usu. MR
19
Q

What are the health supervision guidelines in newborns (from birth to 1mo) in PWS?

A
  • confirm diagnosis with methylation
  • review history for growth & development, feeding problems, symptoms OSA
  • physical exam for hypotonia & hypogonadism
  • special feeding issues
  • refer to early interventions
  • provide support services for PWS
20
Q

What are the health supervision in infancy (1m to 1y) for PWS?

A
  • plot growth
  • development and refer to early intervention
  • monitor time/work of feeding and caloric density of food to maintain appropriate growth
  • evaluate for undescended tested or inguinal hernia
  • consider trial of hCG injections and referral to endocrinology
  • ophthalmology
  • vaccines as needed
  • increased risk of seizures
21
Q

What are the health supervision guidelines in early childhood (1-5yo) in PWS?

A
  • growth and development
  • feeding issues and dietician referral
  • annual hearing and vision screening before 3yo
  • scoliosis q1y
  • reduced salivation and increased caries so dentist q3-4m
  • assess for OSA
22
Q

What are the health supervision guidelines in late childhood (5-13yo) for PWS?

A
  • growth and development
  • scoliosis
  • evaluate behaviors such as binge-eating, running away, skin picking
  • ophthalmology q1y (strabismus)
  • signs of premature adrenarche
  • mgmt skin picking
23
Q

What are the health supervision guidelines in adolescence to early adulthood (13-21yo) for PWS?

A
  • physical exam for evidence of CHF, peripheral edema, skin picking, scoliosis
  • evaluate diet, caloric intake, & exercise program and stress obesity prevention
  • ophthalmology q1y
  • monitor for signs of psychosis or OVD
  • pubertal evaluation and refer to endocrine

Guidelines (13 decks)

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